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Mutation

Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma

Mieke Versluis, Mark J. de Lange, Sake I. van Pelt, Claudia A. L. Ruivenkamp, Wilma G. M. Kroes, Jinfeng Cao, Martine J. Jager, Gre P. M. Luyten, Pieter A. van der Velden

published 12 Mar 2015

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T396I Mutation of Mouse Sufu Reduces the Stability and Activity of Gli3 Repressor

Shigeru Makino, Olena Zhulyn, Rong Mo, Vijitha Puviindran, Xiaoyun Zhang, Takuya Murata, Ryutaro Fukumura, Yuichi Ishitsuka, Hayato Kotaki, Daisuke Matsumaru, Shunsuke Ishii, Chi-Chung Hui, Yoichi Gondo

published 11 Mar 2015

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Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up

Haihua Zhang, Lifang Dai, Na Chen, Lili Zang, Xuerong Leng, Li Du, Jingmin Wang, Yuwu Jiang, Feng Zhang, Xiru Wu, Ye Wu

published 11 Mar 2015

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Overexpression of an Outer Membrane Protein Associated with Decreased Susceptibility to Carbapenems in Proteus mirabilis

Yi-Lin Tsai, Min-Cheng Wang, Po-Ren Hsueh, Ming-Che Liu, Rouh-Mei Hu, Yue-Jin Wu, Shwu-Jen Liaw

published 10 Mar 2015

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Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han

published 05 Mar 2015

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Binding of Subdomains 1/2 of PfEMP1-DBL1α to Heparan Sulfate or Heparin Mediates Plasmodium falciparum Rosetting

Davide Angeletti, Tatyana Sandalova, Mats Wahlgren, Adnane Achour

published 05 Mar 2015

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Lincosamide Synthetase—A Unique Condensation System Combining Elements of Nonribosomal Peptide Synthetase and Mycothiol Metabolism

Jiri Janata, Stanislav Kadlcik, Marketa Koberska, Dana Ulanova, Zdenek Kamenik, Petr Novak, Jan Kopecky, Jitka Novotna, Bojana Radojevic, Kamila Plhackova, Radek Gazak, Lucie Najmanova

published 05 Mar 2015

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Tigecycline Susceptibility and the Role of Efflux Pumps in Tigecycline Resistance in KPC-Producing Klebsiella pneumoniae

Fang He, Ying Fu, Qiong Chen, Zhi Ruan, Xiaoting Hua, Hua Zhou, Yunsong Yu

published 03 Mar 2015

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α-Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.

Maria Grazia Bisconte, Mercedes Caldora, Gennaro Musollino, Giovanna Cardiero, Angela Flagiello, Gaetana La Porta, Laura Lagona, Romeo Prezioso, Gabriele Qualtieri, Carlo Gaudiano, Emilia Medulla, Antonello Merlino, Piero Pucci, Giuseppina Lacerra

published 02 Mar 2015

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Antimicrobial Characterization of Site-Directed Mutagenesis of Porcine Beta Defensin 2

Xian-xian Huang, Chun-yu Gao, Qing-jun Zhao, Chun-li Li

published 26 Feb 2015

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The Use of a Two-Tiered Testing Strategy for the Simultaneous Detection of Small EGFR Mutations and EGFR Amplification in Lung Cancer

Marzena Anna Lewandowska, Karol Czubak, Katarzyna Klonowska, Wojciech Jozwicki, Janusz Kowalewski, Piotr Kozlowski

published 26 Feb 2015

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Whole Genome Sequencing Based Characterization of Extensively Drug-Resistant Mycobacterium tuberculosis Isolates from Pakistan

Asho Ali, Zahra Hasan, Ruth McNerney, Kim Mallard, Grant Hill-Cawthorne, Francesc Coll, Mridul Nair, Arnab Pain, Taane G. Clark, Rumina Hasan

published 26 Feb 2015

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How Structural and Physicochemical Determinants Shape Sequence Constraints in a Functional Enzyme

Luciano A. Abriata, Timothy Palzkill, Matteo Dal Peraro

published 23 Feb 2015

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